Results 41 to 50 of about 452 (111)

Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio. [PDF]

open access: yesInt J Mol Sci
Koleva L   +9 more
europepmc   +1 more source

Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder. [PDF]

open access: yesGenet Med Open
Ng BG   +47 more
europepmc   +1 more source

Severe Hemolytic Anemia: Atypical Presentation of Cobalamin Deficiency. [PDF]

open access: yesJ Pediatr Hematol Oncol
Fraga C   +8 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases. [PDF]

open access: yesPrenat Diagn
Bedei I   +9 more
europepmc   +1 more source

A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population. [PDF]

open access: yesHum Mutat
Younis NS   +11 more
europepmc   +1 more source

Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1R5G. [PDF]

open access: yesGenes (Basel)
Figura JR   +14 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy